Background: Phospholipase C epsilon 1 (PLCE1) encodes a member of the phospholipase family of proteinsthat play crucial roles in carcinogenesis and progression of several cancers including esophageal cancer (EC). Intwo large scale genome-wide association studies (GWAS) single nucleotide polymorphisms (SNP, rs2274223A>G,rs3765524C>T) in PLCE1 were identified as novel susceptibility loci of esophageal cancer (EC) in China. The aimof the present study was to investigate this finding in Kashmir Valley, a high risk area. Materials and
Methods: Wedetermined genotypes of three potentially functional SNPs (rs2274223A>G, rs3765524C>T and rs7922612C>T) ofPLCE1 in 135 EC patients, and 195 age and gender matched controls in Kashmiri valley by PCR RFLP method.Risk for developing EC was estimated by binary logistic regression using SPSS.
Results: The selected PLCE1polymorphisms did not show independent association with EC. However, the G2274223T3765524T7922612 haplotype wassigniﬁcantly associated with increased risk of EC (OR=2.92; 95% CI=1.30-6.54; p=0.009). Smoking and saltedtea proved to be independent risk factors for EC.
Conclusions: Genetic variations in PLCE1 modulate risk ofEC in the high risk Kashmiri population.